Mapping the Genotype, Phenotype, and Natural History of Phelan-McDermid Syndrome

Running, not enrolling

Conditions studied: Phelan-McDermid Syndrome, Autism Spectrum Disorder, Intellectual Disability

In brief

The purpose of this study is to comprehensively characterize PMS using standardized medical, cognitive, and behavioral measures and to track the natural history of the syndrome using repeated longitudinal assessments. In addition, this study will be aiming to identify biomarkers using neuroimaging, including diffusion tensor imaging and identify genetic factors which contribute to diverse phenotypes in patients with PMS.

Key facts

Study ID

NCT02461420

Run by

Boston Children's Hospital

People needed

207

Starts

2015-05-01

Expected to finish

2026-12-01

Last updated by the study team

2026-08-06

Who can join

Age: 2 and older. Sex: any. Healthy volunteers: accepted.

You may qualify if…

• Individuals older than 18 months of age with pathogenic deletions or mutations of the SHANK3 gene
• English speaking individuals

You may not qualify if…

• Has taken an investigational drug as part of another research study, within 30 days prior to study enrollment
• For subjects involved in imaging biomarker assessment: contraindications to 3T MRI scanning, such as metal implants/non-compatible medical devices or medical conditions, including vagus nerve stimulator
• For subjects involved in EEG/ ERP biomarker assessment: contraindications to EEG/ERP, such as uncooperative or destructive behaviors preventing lead placement or capture by ERP/VEP equipment. Under age 2 or over age 11 at the time of enrollment.
• Unwilling or unable to comply with study procedures and assessments

Where it is running

• Stanford University — Stanford, California, United States
• Rush University Medical Center — Chicago, Illinois, United States
• National Institutes of Health — Bethesda, Maryland, United States
• Boston Children's Hospital — Boston, Massachusetts, United States
• Icahn School of Medicine at Mount Sinai — New York, New York, United States

Full record on ClinicalTrials.gov

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